ATXN1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ATXN1 wild-type allele is located in the vicinity of 6p22.3 and is approximately 462 kb in length. This allele, which encodes ataxin-1 protein, plays a role in Notch signaling, chromatin binding and RNA metabolism. CGA repeat expansion within the coding region of the gene is associated with spinocerebellar ataxia 1.

**Synonyms:** - ATX1 - Ataxin 1 wt Allele - D6S504E - SCA1 - Spinocerebellar Ataxia 1 (Olivopontocerebellar Ataxia 1, Autosomal Dominant, Ataxin 1) Gene